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Background  Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, caused by mutations in the  SLC12A3  gene, which encodes the renal thiazide-sensitive Na/Cl cotransporter (NCCT) in the distal renal tubule.    Case presentation  A 23-year-old woman was admitted with limb numbness, recurrent tetany and palpitation. Laboratory tests showed hypokalemic alkalosis, hypomagnesemia, hypocalcemia and secondary hyperaldosteronism, as well as hypocalciuria and transient decreased PTH. Next-generation sequencing detected a novel homozygous mutations c.2039delG in the  SLC12A3  gene, and her father and children were all heterozygous carriers.    Conclusion  We reported a case of GS with a novel homozygous frame-shift mutation of  SLC12A3 , and reviewed recent literatures about diagnosis, differential diagnosis and treatments. Hypocalcemia in Gitelman syndrome is rare, and may be related to inhibited PTH secretion induced by hypomagnesemia.    Electronic supplementary material  The online version of this article (10.1186/s12882-018-1163-3) contains supplementary material, which is available to authorized users.

A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia